Canonical Allele Identifier: CA413703972

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2764401
• ClinVar RCV Id: RCV003512585
• MyVariant Identifiers: chrX:g.76763918C>T (hg19) ; chrX:g.77508440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508440C>T , CM000685.2:g.77508440C>T	GRCh38
NC_000023.10:g.76763918C>T , CM000685.1:g.76763918C>T	GRCh37
NC_000023.9:g.76650574C>T	NCBI36
NG_008838.2:g.282782G>A
NG_008838.3:g.282830G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7390G>A MANE Select	ENSP00000362441.4:p.Ala2464Thr
ENST00000675732.1:c.2488G>A	ENSP00000502598.1:p.Ala830Thr
ENST00000373344.9:c.7390G>A	ENSP00000362441.4:p.Ala2464Thr
ENST00000395603.7:c.7276G>A	ENSP00000378967.3:p.Ala2426Thr
ENST00000480283.5:c.*7018G>A	ENSP00000480196.1:n.*7018G>A
ENST00000623706.3:n.5710G>A
NM_000489.4:c.7390G>A	NP_000480.3:p.Ala2464Thr
NM_138270.3:c.7276G>A	NP_612114.2:p.Ala2426Thr
XM_005262153.3:c.7387G>A	XP_005262210.2:p.Ala2463Thr
XM_005262154.3:c.7303G>A	XP_005262211.2:p.Ala2435Thr
XM_005262155.3:c.7273G>A	XP_005262212.2:p.Ala2425Thr
XM_005262156.3:c.7225G>A	XP_005262213.2:p.Ala2409Thr
XM_005262157.3:c.7186G>A	XP_005262214.2:p.Ala2396Thr
XM_006724666.2:c.7273G>A	XP_006724729.1:p.Ala2425Thr
XM_006724667.2:c.7111G>A	XP_006724730.1:p.Ala2371Thr
XR_938400.1:n.8982G>A
NM_000489.5:c.7390G>A	NP_000480.3:p.Ala2464Thr
XM_005262153.5:c.7387G>A	XP_005262210.2:p.Ala2463Thr
XM_005262154.5:c.7303G>A	XP_005262211.2:p.Ala2435Thr
XM_005262155.4:c.7273G>A	XP_005262212.2:p.Ala2425Thr
XM_005262156.4:c.7225G>A	XP_005262213.2:p.Ala2409Thr
XM_005262157.5:c.7186G>A	XP_005262214.2:p.Ala2396Thr
XM_006724666.4:c.7273G>A	XP_006724729.1:p.Ala2425Thr
XM_006724667.3:c.7111G>A	XP_006724730.1:p.Ala2371Thr
XM_017029601.2:c.7300G>A	XP_016885090.1:p.Ala2434Thr
XM_017029602.1:c.7270G>A	XP_016885091.1:p.Ala2424Thr
XM_017029603.1:c.7222G>A	XP_016885092.1:p.Ala2408Thr
XM_017029604.2:c.7189G>A	XP_016885093.1:p.Ala2397Thr
XM_017029605.1:c.7186G>A	XP_016885094.1:p.Ala2396Thr
XM_017029606.2:c.7159G>A	XP_016885095.1:p.Ala2387Thr
XM_017029607.2:c.7156G>A	XP_016885096.1:p.Ala2386Thr
XM_017029608.2:c.7108G>A	XP_016885097.1:p.Ala2370Thr
XM_017029609.1:c.7072G>A	XP_016885098.1:p.Ala2358Thr
XM_017029610.1:c.7069G>A	XP_016885099.1:p.Ala2357Thr
XM_017029611.1:c.7024G>A	XP_016885100.1:p.Ala2342Thr
XR_001755700.2:n.7689G>A
NM_138270.4:c.7276G>A	NP_612114.2:p.Ala2426Thr
NM_000489.6:c.7390G>A MANE Select	NP_000480.3:p.Ala2464Thr
NM_138270.5:c.7276G>A	NP_612114.2:p.Ala2426Thr